1. Name of the genetic disease- The name of the genetic disease is down syndrome.
2. Symptoms of disease-
Short stature. A child often grows slowly and, as an adult, is shorter than average.
Weak muscles throughout the body. A child may seem to have less strength than other children of the same age. Weak abdominal muscles also make the stomach stick out.
A short, wide neck with excess fat and skin Usually, this trait is less obvious as the child gets older.
Short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.
A single crease across the center of the palms of the hands.
3. When is the disease usually detected... at birth or later in life? soon after birth
4. Frequency of carriers of this disease in the population- 1 in 800 or 340,000 in the us
5. Frequency of disease in the population- 1 in 800
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? recessive, sex linked
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes? the disease is X-linked
8. What chromosome number has been determined to carry this gene? Extra 21st Chromosome
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? down syndrome sadly has no treatment
10. What is the prognosis or outlook for your baby's recovery? 85% infants living after a year
11. What future techniques might be used to correct or eliminate your baby's disease? chromosome changing
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease. school would be hard for the kid and the parent
13. Include diagrams of your child or factors related to your disease.
1. Name of the genetic disease- The name of the genetic disease is down syndrome.
2. Symptoms of disease-
3. When is the disease usually detected... at birth or later in life? soon after birth
4. Frequency of carriers of this disease in the population- 1 in 800 or 340,000 in the us
5. Frequency of disease in the population- 1 in 800
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? recessive, sex linked
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes? the disease is X-linked
8. What chromosome number has been determined to carry this gene? Extra 21st Chromosome
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? down syndrome sadly has no treatment
10. What is the prognosis or outlook for your baby's recovery? 85% infants living after a year
11. What future techniques might be used to correct or eliminate your baby's disease? chromosome changing
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease. school would be hard for the kid and the parent
13. Include diagrams of your child or factors related to your disease.